Endocrine Abstracts Search

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Showing page 1 of results 1 - 10 of about 17 matches for "hughes-claire"

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Growth hormone neurosecretory dysfunction as part of the spectrum of growth hormone deficiency disorders which benefit from growth hormone treatment
Silvana Caiulo; Hoong-Wei Gan; Claire R. Hughes; Rakesh Amin; Helen Spoudeas; Catherine Peters; Peter Hindmarsh; Pratik Shah; Me
http://www.endocrine-abstracts.org/ea/0051/ea0051p038.htm
Published: 2017-10-30

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Permanent Neonatal Diabetes Mellitus due to a Novel Homozygous GCK Mutation in a Premature Baby with IUGR and Its Management
Nirit Braha; Franco Elisa De; Adam Dawes; Kate Sharples; Abdul Moodambail; Claire Hughes; Sian Ellard; Evelien Gevers
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p212.htm
Published: 2016-08-19

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Clinical Phenotype of Patients with MCM4 Mutation Suggests Pubertal Delay in Males in Addition to Adrenal Failure, Absent Adrenarche, and Short Stature in Boys and Girls
Claire Hughes; Adrian Clark; Louise Metherell; Colm Costigan
http://abstracts.eurospe.org/hrp/0082/hrp0082fc1.2.htm
Published: 2014-08-28

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ACTH insensitivity syndromes
Adrian Clark; Claire Hughes; Louise Metherell
http://www.endocrine-abstracts.org/ea/0020/ea0020s3.2.htm
Published: 2009-04-01

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Two novel missense mutations in MRAP (p.Y59D and p.V26A) that lead to late onset Familial Glucocorticoid Deficiency (FGD) type 2
Claire Hughes; Teng-Teng Chung; Adrian Clark; Louise Metherell
http://www.endocrine-abstracts.org/ea/0023/ea0023p16.htm
Published: 2009-11-01

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An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W)
Claire Hughes; Serap Turan; Zeynep Atay; Tulay Guran; Abdullah Bereket; Adrian Clark; Louise Metherell
http://www.endocrine-abstracts.org/ea/0025/ea0025p301.htm
Published: 2011-04-01

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MCM4 mutation causes a novel DNA replication disorder associated with short stature and adrenal failure
Claire Hughes; Leonardo Guasti; Eirini Meimaridou; Chen-Hua Chaung; John Schimenti; Peter King; Colm Costigan; Adrian Clark; Lou
http://www.endocrine-abstracts.org/ea/0027/ea0027oc2.3.htm
Published: 2011-11-01

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Twenty novel mutations in nicotinamide nucleotide transhydrogenase (NNT) causing FGD
Lou Metherell; Eirini Meimaridou; Julia Kowalczyk; Leo Guasti; Claire Hughes; Nicholas Mann; Ritwik Banerjee; Peter King; Adrian
http://www.endocrine-abstracts.org/ea/0027/ea0027oc1.6.htm
Published: 2011-11-01

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Familial glucocorticoid deficiency: an update
Adrian J L Clark; Claire Hughes; Eirini Meimaridou; Lou Metherell
http://www.endocrine-abstracts.org/ea/0027/ea0027s16.htm
Published: 2011-11-01

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A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans
Rathi Prasad; Claire Hughes; Li Chan; Catherine Peters; Nisha Nathwani; Adrian Clark; Helen Storr; Louise Metherell
http://www.endocrine-abstracts.org/ea/0031/ea0031oc2.5.htm
Published: 2013-03-01